Variant report

Variant	esv3365966
Chromosome Location	chr6:149637634-149640707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:149638494-149638818	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:149638387-149638753	K562	blood:	n/a	n/a
3	ATF2	chr6:149640165-149641065	GM12878	blood:	n/a	n/a
4	ATF2	chr6:149639222-149640982	GM12878	blood:	n/a	n/a
5	BCL3	chr6:149638360-149639002	GM12878	blood:	n/a	chr6:149638863-149638876 chr6:149638416-149638429 chr6:149638655-149638668 chr6:149638658-149638671 chr6:149638660-149638669 chr6:149638441-149638454
6	BCLAF1	chr6:149639540-149640584	GM12878	blood:	n/a	chr6:149639598-149639607 chr6:149640392-149640401 chr6:149639540-149639549 chr6:149640035-149640042
7	BCLAF1	chr6:149637776-149638885	GM12878	blood:	n/a	chr6:149638863-149638876 chr6:149638416-149638429 chr6:149638127-149638136 chr6:149638655-149638668 chr6:149638658-149638671 chr6:149638660-149638669 chr6:149638240-149638249 chr6:149638441-149638454
8	BHLHE40	chr6:149639101-149639377	K562	blood:	n/a	n/a
9	BHLHE40	chr6:149639174-149639612	GM12878	blood:	n/a	n/a
10	BHLHE40	chr6:149637930-149638962	GM12878	blood:	n/a	chr6:149638614-149638630 chr6:149638624-149638640 chr6:149638866-149638882 chr6:149638444-149638460 chr6:149638860-149638876 chr6:149638863-149638879
11	BHLHE40	chr6:149637876-149638744	K562	blood:	n/a	chr6:149638614-149638630 chr6:149638624-149638640 chr6:149638444-149638460
12	BRCA1	chr6:149639146-149639346	GM12878	blood:	n/a	n/a
13	BRCA1	chr6:149639161-149639318	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr6:149638441-149638880	HepG2	liver:	n/a	n/a
15	BRCA1	chr6:149639172-149639297	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr6:149638136-149638837	H1-hESC	embryonic stem cell:	n/a	n/a
17	BRCA1	chr6:149638295-149638834	GM12878	blood:	n/a	n/a
18	BRCA1	chr6:149639201-149639305	HepG2	liver:	n/a	n/a
19	BRCA1	chr6:149638271-149638845	Hela-S3	cervix:	n/a	n/a
20	CBX3	chr6:149638290-149638781	K562	blood:	n/a	n/a
21	CCNT2	chr6:149637982-149639574	K562	blood:	n/a	chr6:149639539-149639548 chr6:149638900-149638909 chr6:149639363-149639372 chr6:149639413-149639422 chr6:149638895-149638904 chr6:149638505-149638514
22	CEBPB	chr6:149640170-149640505	HepG2	liver:	n/a	chr6:149640324-149640335 chr6:149640325-149640336 chr6:149640324-149640337
23	CEBPB	chr6:149640084-149640531	A549	lung:	n/a	chr6:149640324-149640335 chr6:149640325-149640336 chr6:149640324-149640337
24	CEBPB	chr6:149639758-149640526	Hela-S3	cervix:	n/a	chr6:149640324-149640335 chr6:149640325-149640336 chr6:149640324-149640337
25	CEBPB	chr6:149638273-149638730	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr6:149640114-149640532	MCF-7	breast:	n/a	chr6:149640324-149640335 chr6:149640325-149640336 chr6:149640324-149640337
27	CEBPB	chr6:149640149-149640463	K562	blood:	n/a	chr6:149640324-149640335 chr6:149640325-149640336 chr6:149640324-149640337
28	CEBPB	chr6:149640146-149640486	IMR90	lung:	n/a	chr6:149640324-149640335 chr6:149640325-149640336 chr6:149640324-149640337
29	CEBPB	chr6:149640164-149640479	A549	lung:	n/a	chr6:149640324-149640335 chr6:149640325-149640336 chr6:149640324-149640337
30	CEBPD	chr6:149638348-149638917	HepG2	liver:	n/a	n/a
31	CHD1	chr6:149638008-149638601	GM12878	blood:	n/a	chr6:149638577-149638587 chr6:149638334-149638344
32	CHD1	chr6:149638309-149638482	H1-hESC	embryonic stem cell:	n/a	chr6:149638334-149638344
33	CHD1	chr6:149637894-149638074	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD1	chr6:149639236-149639252	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD1	chr6:149639125-149639327	GM12878	blood:	n/a	n/a
36	CHD1	chr6:149639695-149640599	GM12878	blood:	n/a	n/a
37	CHD2	chr6:149637997-149640063	K562	blood:	n/a	chr6:149639412-149639422 chr6:149638577-149638587 chr6:149638334-149638344
38	CHD2	chr6:149638180-149639535	H1-hESC	embryonic stem cell:	n/a	chr6:149639412-149639422 chr6:149638577-149638587 chr6:149638334-149638344
39	CHD2	chr6:149638025-149639755	HepG2	liver:	n/a	chr6:149639412-149639422 chr6:149638577-149638587 chr6:149638334-149638344
40	CHD2	chr6:149637953-149639871	Hela-S3	cervix:	n/a	chr6:149639412-149639422 chr6:149638577-149638587 chr6:149638334-149638344
41	CHD2	chr6:149637881-149640368	GM12878	blood:	n/a	chr6:149639412-149639422 chr6:149638577-149638587 chr6:149638334-149638344
42	CREB1	chr6:149637892-149639789	HepG2	liver:	n/a	n/a
43	CREB1	chr6:149637918-149640040	GM12878	blood:	n/a	n/a
44	CREB1	chr6:149638277-149638871	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr6:149638004-149638737	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr6:149638064-149638729	A549	lung:	n/a	n/a
47	CTBP2	chr6:149637974-149638719	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr6:149639160-149639310	GM12873	blood:	n/a	n/a
49	CTCF	chr6:149638260-149638410	GM12873	blood:	n/a	chr6:149638264-149638277
50	CTCF	chr6:149638260-149638410	AG10803	skin:	n/a	chr6:149638264-149638277

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:149639041-149639091	SK-N-MC	brain:	n/a
2	chr6:149639041-149639091	SK-N-MC	brain:	n/a
3	chr6:149638666-149638716	K562	blood:	n/a
4	chr6:149638666-149638716	HIPEpiC	eye:	n/a
5	chr6:149639693-149639743	HNPCEpiC	eye:	n/a
6	chr6:149639101-149639151	HCT-116	colon:	n/a
7	chr6:149638041-149638091	HCT-116	colon:	n/a
8	chr6:149638041-149638091	HNPCEpiC	eye:	n/a
9	chr6:149639101-149639151	AG04450	lung:	fetal
10	chr6:149639101-149639151	HNPCEpiC	eye:	n/a
11	chr6:149639041-149639091	SK-N-SH	brain:	n/a
12	chr6:149638666-149638716	NHBE	bronchial:	n/a
13	chr6:149638041-149638091	HEK293	kidney:	embryo
14	chr6:149639101-149639151	NT2-D1	testis:	n/a
15	chr6:149639101-149639151	HCF	heart:	n/a
16	chr6:149638041-149638091	Hela-S3	cervix:	n/a
17	chr6:149638382-149638432	H1-hESC	embryonic stem cell:	embryo
18	chr6:149639693-149639743	ovcar-3	ovarian:	n/a
19	chr6:149638041-149638091	T-47D	breast:	n/a
20	chr6:149638666-149638716	AG04449	skin:	fetal
21	chr6:149638666-149638716	A549	lung:	n/a
22	chr6:149639101-149639151	HEK293	kidney:	embryo
23	chr6:149639041-149639091	CMK	blood:	n/a
24	chr6:149639041-149639091	AoSMC	blood vessel:	n/a
25	chr6:149638666-149638716	SK-N-MC	brain:	n/a
26	chr6:149639041-149639091	A549	lung:	n/a
27	chr6:149638666-149638716	AG04450	lung:	fetal
28	chr6:149639693-149639743	BE2_C	brain:	n/a
29	chr6:149638041-149638091	PrEC	prostate:	n/a
30	chr6:149638041-149638091	HPAEpiC	pulmonary alveolar:	n/a
31	chr6:149639101-149639151	AG09309	skin:	n/a
32	chr6:149639041-149639091	GM06990	blood:	n/a
33	chr6:149639041-149639091	PrEC	prostate:	n/a
34	chr6:149638041-149638091	GM12878	blood:	n/a
35	chr6:149638666-149638716	ProgFib	skin:	n/a
36	chr6:149639101-149639151	GM19239	blood:	n/a
37	chr6:149638041-149638091	Jurkat	blood:	n/a
38	chr6:149638041-149638091	ECC-1	luminal epithelium:	n/a
39	chr6:149639041-149639091	BE2_C	brain:	n/a
40	chr6:149638666-149638716	HNPCEpiC	eye:	n/a
41	chr6:149639693-149639743	AG09309	skin:	n/a
42	chr6:149639041-149639091	U87	brain:	n/a
43	chr6:149637881-149637931	RPTEC	kidney:	n/a
44	chr6:149637881-149637931	MCF-7	breast:	n/a
45	chr6:149638666-149638716	HRCEpiC	kidney:	n/a
46	chr6:149639101-149639151	RPTEC	kidney:	n/a
47	chr6:149638382-149638432	HRPEpiC	eye:	n/a
48	chr6:149639693-149639743	A549	lung:	n/a
49	chr6:149639041-149639091	NHBE	bronchial:	n/a
50	chr6:149638041-149638091	HAEpiC	amniotic membrane:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:32832084..32832584-chr6:149638471..149638974,2	NB4	blood:
2	chr6:149636340..149638301-chr6:150416961..150418644,2	K562	blood:
3	chr6:149538892..149540721-chr6:149638148..149641111,2	MCF-7	breast:
4	chr6:149625453..149629470-chr6:149636058..149640474,5	MCF-7	breast:
5	chr4:174090099..174090929-chr6:149638008..149638852,2	NB4	blood:
6	chr6:149406954..149409794-chr6:149636560..149638477,3	MCF-7	breast:
7	chr6:149638315..149640262-chr6:149865472..149868393,2	K562	blood:
8	chr6:149409902..149411675-chr6:149636224..149638635,2	K562	blood:
9	chr6:149397256..149399835-chr6:149636593..149638648,2	MCF-7	breast:
10	chr6:149638704..149639215-chr9:132388273..132388852,2	Hela-S3	cervix:
11	chr6:149557890..149560221-chr6:149637001..149638608,2	MCF-7	breast:
12	chr6:149635359..149638022-chr6:149700186..149702826,2	K562	blood:
13	chr6:149636797..149639661-chr6:149663144..149666590,3	K562	blood:
14	chr6:149516981..149518503-chr6:149637137..149638798,2	MCF-7	breast:
15	chr6:149349779..149353985-chr6:149637379..149639962,5	MCF-7	breast:
16	chr6:149351823..149355344-chr6:149638842..149641991,4	MCF-7	breast:
17	chr6:149637077..149638837-chr6:149727129..149729209,2	K562	blood:

Variant related genes	Relation type
TAB2	TF binding region
TAB2	CpG island
ENSG00000236591	chromatin interactions
ENSG00000055208	chromatin interactions
ENSG00000131013	chromatin interactions
ENSG00000148335	chromatin interactions
ENSG00000087470	chromatin interactions
ENSG00000216265	chromatin interactions
ENSG00000228408	chromatin interactions
ENSG00000245213	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574933975	chr6:149637642-149637643	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs543553809	chr6:149637647-149637648	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs34730646	chr6:149637683-149637684	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs11155639	chr6:149637690-149637691	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs149414464	chr6:149637750-149637751	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs143746980	chr6:149637764-149637765	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs536385732	chr6:149637773-149637774	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs527643280	chr6:149637777-149637778	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs559848	chr6:149637811-149637812	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546200853	chr6:149637833-149637834	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs576255949	chr6:149637901-149637902	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs545603832	chr6:149637908-149637909	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs62426062	chr6:149637918-149637919	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs545656	chr6:149637979-149637980	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs114014387	chr6:149638084-149638085	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs113790334	chr6:149638091-149638092	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs560936148	chr6:149638101-149638102	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs529805216	chr6:149638132-149638133	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs473451	chr6:149638198-149638199	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs563452445	chr6:149638201-149638202	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs521989	chr6:149638224-149638225	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs552356859	chr6:149638235-149638236	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs565787982	chr6:149638297-149638298	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs373763659	chr6:149638372-149638373	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs528431882	chr6:149638375-149638376	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs475342	chr6:149638396-149638397	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs520852	chr6:149638397-149638398	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs536322220	chr6:149638416-149638417	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs556209567	chr6:149638424-149638425	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs570148239	chr6:149638430-149638431	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs538817826	chr6:149638455-149638456	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs559111985	chr6:149638479-149638480	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs572649536	chr6:149638544-149638545	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs571243594	chr6:149638553-149638554	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs5880831	chr6:149638554-149638555	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs567381641	chr6:149638557-149638558	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs34953328	chr6:149638572-149638573	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs398066381	chr6:149638574-149638575	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs541753467	chr6:149638622-149638623	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs554589761	chr6:149638640-149638641	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs75407355	chr6:149638691-149638692	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs517366	chr6:149638736-149638737	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs517365	chr6:149638737-149638738	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs35797289	chr6:149638975-149638976	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs543465299	chr6:149638997-149638998	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs563339709	chr6:149639027-149639028	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs10611396	chr6:149639099-149639100	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs397897292	chr6:149639114-149639115	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs532235534	chr6:149639136-149639137	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs545674012	chr6:149639158-149639159	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD

Chromatin state (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149628000-149637800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:149636600-149637800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:149636600-149637800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:149637000-149637800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:149637200-149637800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:149637200-149637800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr6:149637200-149637800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:149637200-149637800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr6:149637200-149639800	Active TSS	K562	blood
10	chr6:149637200-149640000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:149637200-149640200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr6:149637200-149640200	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr6:149637200-149640400	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr6:149637200-149640400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:149637200-149640800	Active TSS	A549	lung
16	chr6:149637200-149641000	Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr6:149637400-149637800	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr6:149637400-149637800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr6:149637400-149637800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr6:149637400-149637800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr6:149637400-149637800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr6:149637400-149637800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:149637400-149637800	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr6:149637400-149637800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr6:149637400-149637800	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr6:149637400-149637800	Enhancers	Stomach Mucosa	stomach
27	chr6:149637400-149637800	Flanking Active TSS	HepG2	liver
28	chr6:149637400-149637800	Flanking Active TSS	HMEC	breast
29	chr6:149637400-149637800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr6:149637400-149637800	Flanking Active TSS	NHEK	skin
31	chr6:149637400-149638000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr6:149637400-149638000	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr6:149637400-149638000	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr6:149637400-149638000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr6:149637400-149638000	Flanking Active TSS	Dnd41	blood
36	chr6:149637400-149638200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:149637400-149638400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:149637400-149639600	Active TSS	Fetal Muscle Leg	muscle
39	chr6:149637400-149639600	Active TSS	Psoas Muscle	Psoas
40	chr6:149637400-149639800	Active TSS	Thymus	Thymus
41	chr6:149637400-149640200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:149637400-149640400	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr6:149637400-149640400	Active TSS	Right Ventricle	heart
44	chr6:149637400-149640400	Active TSS	Hela-S3	cervix
45	chr6:149637400-149640600	Active TSS	NHDF-Ad	bronchial
46	chr6:149637400-149640800	Active TSS	H1 Cell Line	embryonic stem cell
47	chr6:149637400-149640800	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr6:149637400-149640800	Active TSS	Brain Cingulate Gyrus	brain
49	chr6:149637400-149640800	Active TSS	Fetal Stomach	stomach
50	chr6:149637400-149641000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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